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Neuromusculaire ziekten
Congenitale en metabole myasthene syndromen NEM12v16.1
18 genen
Genpanel dekking 15X: 99.7 %
18 genen
Genpanel dekking 15X: 99.7 %
NEM12v16.1
06-07-2023
AGRN
DPM3
GFPT1
CHRNA1
CHRND
CHRNG
COLQ
LAMB2
DOK7
PLEC
MUSK
DPM2
CHAT
RAPSN
DPAGT1
CHRNE
CHRNB1
SCN4A
AGRN
ALG14
TPM3
SYT2
PREPL
GFPT1
SLC5A7
CHRNA1
CHRND
CHRNG
COLQ
LAMB2
GMPPB
DOK7
PLEC
ALG2
MUSK
SLC18A3
CHAT
COL13A1
LRP4
RAPSN
DPAGT1
VAMP1
MYO9A
CHRNE
CHRNB1
SCN4A
SNAP25
LAMA5
SLC25A1
Dekkingspercentage
CreV4 (15X)
-
SSv7 (15X)
-
Transcript
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Congenitale en metabole myasthene syndromen NEM12v19.1
31 genen
Genpanel dekking 15X: 99.6 %
31 genen
Genpanel dekking 15X: 99.6 %
NEM12v19.1
06-07-2023
AGRN
DPM3
GFPT1
CHRNA1
CHRND
CHRNG
COLQ
LAMB2
DOK7
PLEC
MUSK
DPM2
CHAT
RAPSN
DPAGT1
CHRNE
CHRNB1
SCN4A
AGRN
ALG14
TPM3
SYT2
PREPL
GFPT1
SLC5A7
CHRNA1
CHRND
CHRNG
COLQ
LAMB2
GMPPB
DOK7
PLEC
ALG2
MUSK
SLC18A3
CHAT
COL13A1
LRP4
RAPSN
DPAGT1
VAMP1
MYO9A
CHRNE
CHRNB1
SCN4A
SNAP25
LAMA5
SLC25A1
Dekkingspercentage
CreV4 (15X)
-
SSv7 (15X)
-
Transcript
-